Source: INFERRED

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 5077
Gene Symbol: PAX3
PAX3 		paired box 3 0.481 0.769 0.24
CUI: C4551485
Disease: Clinodactyly
Clinodactyly 		disease 0.100 None 0 0
Entrez Id: 5077
Gene Symbol: PAX3
PAX3 		paired box 3 0.481 0.769 0.24
CUI: C1836193
Disease: Synostosis of carpal bones
Synostosis of carpal bones 		phenotype 0.100 None 0 0
Entrez Id: 5077
Gene Symbol: PAX3
PAX3 		paired box 3 0.481 0.769 0.24
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge 		phenotype 0.100 None 0 0
Entrez Id: 5077
Gene Symbol: PAX3
PAX3 		paired box 3 0.481 0.769 0.24
CUI: C1836735
Disease: hypopigmented skin patch
hypopigmented skin patch 		phenotype 0.100 None 0 0
Entrez Id: 5077
Gene Symbol: PAX3
PAX3 		paired box 3 0.481 0.769 0.24
CUI: C1836736
Disease: White eyelashes
White eyelashes 		phenotype 0.100 None 0 0
Entrez Id: 5077
Gene Symbol: PAX3
PAX3 		paired box 3 0.481 0.769 0.24
CUI: C1836737
Disease: White eyebrow
White eyebrow 		phenotype 0.100 None 0 0
Entrez Id: 5077
Gene Symbol: PAX3
PAX3 		paired box 3 0.481 0.769 0.24
CUI: C1837463
Disease: Narrow face
Narrow face 		phenotype 0.100 None 0 0
Entrez Id: 5077
Gene Symbol: PAX3
PAX3 		paired box 3 0.481 0.769 0.24
CUI: C1839767
Disease: Tented upper lip vermilion
Tented upper lip vermilion 		phenotype 0.100 None 0 0
Entrez Id: 5077
Gene Symbol: PAX3
PAX3 		paired box 3 0.481 0.769 0.24
CUI: C1841990
Disease: Aplasia of the vagina
Aplasia of the vagina 		phenotype 0.100 None 0 0
Entrez Id: 5077
Gene Symbol: PAX3
PAX3 		paired box 3 0.481 0.769 0.24
CUI: C1261470
Disease: Congenital meningocele
Congenital meningocele 		disease 0.100 None 0 0
Entrez Id: 5077
Gene Symbol: PAX3
PAX3 		paired box 3 0.481 0.769 0.24
CUI: C1142533
Disease: Smooth philtrum
Smooth philtrum 		phenotype 0.100 None 0 0
Entrez Id: 5077
Gene Symbol: PAX3
PAX3 		paired box 3 0.481 0.769 0.24
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		phenotype 0.100 None 0 0
Entrez Id: 5077
Gene Symbol: PAX3
PAX3 		paired box 3 0.481 0.769 0.24
CUI: C1834055
Disease: Underdeveloped nasal alae
Underdeveloped nasal alae 		phenotype 0.100 None 0 0
Entrez Id: 5077
Gene Symbol: PAX3
PAX3 		paired box 3 0.481 0.769 0.24
CUI: C0423318
Disease: Heterochromia iridis
Heterochromia iridis 		phenotype 0.100 None 0 0
Entrez Id: 5077
Gene Symbol: PAX3
PAX3 		paired box 3 0.481 0.769 0.24
CUI: C0431447
Disease: Synophrys
Synophrys 		disease 0.100 None 0 0
Entrez Id: 5077
Gene Symbol: PAX3
PAX3 		paired box 3 0.481 0.769 0.24
CUI: C0431863
Disease: Carpal synostosis
Carpal synostosis 		disease 0.100 None 0 0
Entrez Id: 5077
Gene Symbol: PAX3
PAX3 		paired box 3 0.481 0.769 0.24
CUI: C0544886
Disease: Somatic mutation
Somatic mutation 		phenotype 0.100 None 0 0
Entrez Id: 5077
Gene Symbol: PAX3
PAX3 		paired box 3 0.481 0.769 0.24
CUI: C0578626
Disease: blue iris (physical finding)
blue iris (physical finding) 		phenotype 0.100 None 0 0
Entrez Id: 5077
Gene Symbol: PAX3
PAX3 		paired box 3 0.481 0.769 0.24
CUI: C0948187
Disease: Tracheomalacia
Tracheomalacia 		disease 0.100 None 0 0
Entrez Id: 5077
Gene Symbol: PAX3
PAX3 		paired box 3 0.481 0.769 0.24
CUI: C1842876
Disease: Depressed nasal ridge
Depressed nasal ridge 		phenotype 0.100 None 0 0
Entrez Id: 5077
Gene Symbol: PAX3
PAX3 		paired box 3 0.481 0.769 0.24
CUI: C4551564
Disease: Narrow nasal bridge
Narrow nasal bridge 		phenotype 0.100 None 0 0
Entrez Id: 5077
Gene Symbol: PAX3
PAX3 		paired box 3 0.481 0.769 0.24
CUI: C4021254
Disease: Cutaneous finger syndactyly
Cutaneous finger syndactyly 		disease 0.100 None 0 0
Entrez Id: 5077
Gene Symbol: PAX3
PAX3 		paired box 3 0.481 0.769 0.24
CUI: C4021801
Disease: Lacrimation abnormality
Lacrimation abnormality 		disease 0.100 None 0 0
Entrez Id: 5077
Gene Symbol: PAX3
PAX3 		paired box 3 0.481 0.769 0.24
CUI: C4021813
Disease: Oral cleft
Oral cleft 		disease 0.100 None 0 0
Entrez Id: 5077
Gene Symbol: PAX3
PAX3 		paired box 3 0.481 0.769 0.24
CUI: C4024159
Disease: Aplasia/Hypoplasia involving the nose
Aplasia/Hypoplasia involving the nose 		phenotype 0.100 None 0 0